| RS1554983717 |
ASS1
|
Health Risk |
Likely pathogenic |
Citrullinemia type I, Citrullinemia |
| RS1554983719 |
ASS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Citrullinemia type I, Citrullinemia type I |
| RS1554984631 |
SDHAF2
|
Health Risk |
Pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1554984881 |
SPTBN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1554984996 |
PAX6
|
Health Risk |
Pathogenic |
Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS1554985024 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS1554985028 |
PAX6
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Aniridia 1 |
| RS1554985100 |
PAX6
|
Health Risk |
Pathogenic |
Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS1554985282 |
PAX6
|
Health Risk |
Pathogenic |
Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS1554985285 |
PAX6
|
Health Risk |
Pathogenic |
— |
| RS1554985305 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS1554985320 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Aniridia 1 |
| RS1554985335 |
PAX6
|
Health Risk |
Pathogenic |
— |
| RS1554985378 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Aniridia 1 |
| RS1554985430 |
PAX6
|
Health Risk |
Conflicting classifications of pathogenicity |
Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS1554985709 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Aniridia 1 |
| RS1554985714 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Aniridia 1 |
| RS1554985716 |
PAX6
|
Health Risk |
Pathogenic |
Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS1554985722 |
PAX6
|
Health Risk |
Pathogenic |
Microphthalmia, Developmental cataract |
| RS1554985737 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Aniridia 1 |
| RS1554985851 |
SPTBN2
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1554986337 |
SPTBN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1554986345 |
SPTBN2
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1554986754 |
PAX6
|
Health Risk |
Pathogenic |
Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS1554986858 |
PAX6
|
Health Risk |
Pathogenic/Likely pathogenic |
Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS1554987311 |
SPTBN2
|
Health Risk |
Likely pathogenic |
— |
| RS1554988946 |
PHF21A
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1554989996 |
PDHX
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS1554990103 |
SBF2
|
Health Risk |
Pathogenic |
— |
| RS1554991338 |
KCNC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554991378 |
KCNC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7 |
| RS1554994665 |
SERPING1
|
Health Risk |
Likely pathogenic |
— |
| RS1554994909 |
SERPING1
|
Health Risk |
Pathogenic |
— |
| RS1554995009 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995115 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS1554995255 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Angioedema |
| RS1554995260 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554995271 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554995330 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995341 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995350 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995381 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995522 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995582 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995706 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995715 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS1554995774 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554995860 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554995891 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995901 |
TCIRG1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1554996130 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554996817 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554996819 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554996833 |
SERPING1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554996859 |
SERPING1
|
Health Risk |
Likely pathogenic |
— |
| RS1554996989 |
KLC2
|
Health Risk |
Pathogenic |
Spastic paraplegia, optic atropy |
| RS1554997818 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554997884 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554997997 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554998040 |
CABP4
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS1554998061 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554999033 |
TCIRG1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1554999205 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554999516 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554999769 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS1555000308 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1555000376 |
TCIRG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1555002387 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555002390 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555002419 |
MRE11
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555002450 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555002457 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS1555002460 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS1555002543 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS1555005270 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS1555005328 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS1555005398 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS1555006433 |
EXT2
|
Health Risk |
Pathogenic |
Exostoses, multiple |
| RS1555009931 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS1555009945 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555012083 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555012835 |
EXT2
|
Health Risk |
Pathogenic |
— |
| RS1555013332 |
SHANK2
|
Health Risk |
Pathogenic |
Autism, susceptibility to |
| RS1555013840 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS1555014282 |
FAM111B
|
Health Risk |
Likely pathogenic |
— |
| RS1555014321 |
CYP2R1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitamin D hydroxylation-deficient rickets, type 1B |
| RS1555014332 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS1555014957 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS1555015018 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS1555015255 |
MRE11
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1555015413 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS1555016276 |
B4GAT1
|
Health Risk |
Likely pathogenic |
— |
| RS1555016387 |
B4GAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
| RS1555016836 |
MMP13
|
Health Risk |
Pathogenic |
— |
| RS1555017184 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS1555017238 |
MRE11
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555017290 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555018818 |
MRE11
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555020573 |
PIK3C2A
|
Health Risk |
Pathogenic |
— |
| RS1555022268 |
GSTP1
|
Health Risk |
Likely pathogenic |
Kala-azar susceptibility 2, Kala-azar susceptibility 2 |